| Accession | HsInv0486 | Region of the inversion | chr7:48841554-48941685 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 57,864 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr7:48841554-48880278 |
| Ancestral orientation | NA | Breakpoint 2 | chr7:48895872-48941685 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
- Martinez-Fundichely et al. 2014 (in preparation)
| Description | Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr7:48870709-48880278 | Breakpoint 2 | chr7:48895872-48928981 | ||||||||||||||||||||
| D/C Score | -3.32 | Disc. Support Prob. | 0.00009 | ||||||||||||||||||||
| Support | 6 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr7:48841554-48870122 | Breakpoint 2 | chr7:48913117-48941685 | ||||||||||||||||||||
| D/C Score | -2.18 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 4 probes | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr7:48841554-48880278 | Breakpoint 2 | chr7:48895872-48941685 | |||||||||||||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | |||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
|
|||||||||||||||
| Flexibility | 11 | GC content | 0.31 | Stability | 1.72 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr7:48853129-48877050 | 23,922 | chr7:48915552-48939592 | 24,041 | 0.984 | Inverted |
+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
Not defined
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:40
| Breakpoint 1 | chr7:48841554-48880278 | Breakpoint 2 | chr7:48895872-48941685 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:40
| Breakpoint 1 | chr7:48841554-48880278 | Breakpoint 2 | chr7:48913117-48928981 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
